ClinVar

NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)

Gene:

G6PC1:glucose-6-phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 42901008 (on Assembly GRCh38)
• Chr17: 41053025 (on Assembly GRCh37)

Preferred name:

NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)

HGVS:

• NC_000017.11:g.42901008C>T
• NG_011808.1:g.5211C>T
• NM_000151.4:c.132C>TMANE SELECT
• NM_001270397.2:c.132C>T
• NP_000142.2:p.Tyr44=
• NP_001257326.1:p.Tyr44=
• LRG_147t1:c.132C>T
• LRG_147:g.5211C>T
• NC_000017.10:g.41053025C>T
• NM_000151.2:c.132C>T
• NM_000151.3:c.132C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs202190197

NCBI 1000 Genomes Browser:

rs202190197

Molecular consequence:

• NM_000151.4:c.132C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270397.2:c.132C>T - synonymous variant - [Sequence Ontology: SO:0001819]